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SCID newborn screening: What we've learned

Journal

JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
Volume 147, Issue 2, Pages 417-426

Publisher

MOSBY-ELSEVIER
DOI: 10.1016/j.jaci.2020.10.020

Keywords

Primary immunodeficiency; T-cell receptor excision circle (TREC); severe combined immunodeficiency (SCID); lymphopenia; dried blood spot; newborn screening

Funding

  1. Primary Immune Deficiency Treatment Consortium [U54-AI082973]
  2. National Institute of Allergy and Infectious Diseases [U54-AI082973]
  3. National Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, Maryland [U54-AI082973]
  4. Jeffrey Modell Foundation
  5. Lisa and Douglas Goldman Fund
  6. Michelle Platt-Ross Foundation

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Newborn screening for severe combined immunodeficiency, the first immune disorder accepted for population-based screening, has proven to be an effective measure in improving outcomes by helping patients avoid devastating infections and receive prompt treatment. The T-cell receptor excision circle test has been widely adopted in the United States, providing important lessons for public health programs and medical professionals.
Newborn screening for severe combined immunodeficiency, the most profound form of primary immune system defects, has long been recognized as a measure that would decrease morbidity and improve outcomes by helping patients avoid devastating infections and receive prompt immune-restoring therapy. The T-cell receptor excision circle test, developed in 2005, proved to be successful in pilot studies starting in the period 2008 to 2010, and by 2019 all states in the United States had adopted versions of it in their public health programs. Introduction of newborn screening for severe combined immunodeficiency, the first immune disorder accepted for population-based screening, has drastically changed the presentation of this disorder while providing important lessons for public health programs, immunologists, and transplanters.

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